Related Experiment Video
Updated: May 2, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
[Antenatal diagnosis: the revolution of new technologies]
Siv Fokstuen1, Frédérique Sloan-Béna2, Olivier lrion3
1Departement de médecine génétique et de laboratoire HUG, 121 Geneve 14. siv.fokstuen@unige.ch
Abstract:
Since ten years, the number of amniocenteses or chorionic villous sampling for maternal anxiety has decreased thanks to the first trimester screening of trisomy 21 by ultrasound and maternal serum analysis. Two new tools have recently revolutionized antenatal screening and diagnosis: Analysing fetal DNA in maternal blood for chromosomes 21, 18 and 13 in order to avoid invasive fetal sampling and genomic comparative hybridization in order to diagnose deletions or duplications not detected by conventional caryotyping. These new technologies are dedicated to high-risk pregnancies, and have limitations. They do not replace ultrasound or first trimester screening. Information and ethics are central in antenatal screening and diagnosis.
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